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Experimental Gene Therapy Targets Duchenne Muscular Dystrophy

Friday, May 6, 2022

Emma Ciafaloni, MDChildren in Rochester were recently among the first in the nation to receive an experimental treatment for Duchenne muscular dystrophy (DMD).  The study is part of an accelerating trend of clinical trials involving gene therapies that could transform how we treat a number of devastating childhood neurological disorders.
Emma Ciafaloni, M.D., a neuromuscular neurologist with the University of Rochester Medical Center (URMC) Department of Neurology and Golisano Children’s Hospital, is leading the Rochester study site.  URMC was recently one of the first three sites in the nation to start dosing patients in a phase 3 placebo-controlled clinical trial for a gene therapy being developed by Sarepta Therapeutics for children with DMD. The international study will soon add additional sites in North America, Europe, and Asia.  Ciafaloni served as the chair of the independent Data Safety and Monitoring Board for the company’s early phase clinical trials of the therapy.

DMD is a condition found almost exclusively in boys and is characterized by muscle weakness, the symptoms of which often appear at a young age and progress rapidly leading to significant disability. Children with DMD typically end up in a wheelchair by age 9 or 10 because of weakness in their legs. The symptoms eventually spread to the heart and muscles responsible for breathing, and the disease is often fatal by the time the individual reaches their 20s or early 30s.  An estimated 12,000 people in the U.S. suffer from the disease.

The muscle weakness associated with DMD occurs due to a genetic defect in muscle cells that impairs the production of dystrophin, an important muscle building protein that is largely absent in people with the disease.  The new treatment consists of a single infusion that, via an associated adenovirus, delivers into muscle cells a separate and potentially functional “micro” version of the dystrophin gene that takes over production of the protein.
The study is the latest in a number of new gene therapies for pediatric neurological disorders that are in the developmental pipeline and have the potential to transform care and significantly reduce the burden of disease.  This includes a gene therapy for spinal muscular atrophy (SMA) that was approved by the FDA in 2019.  Ciafaloni was involved in the clinical trials that led to the therapy’s approval and some of the first children to receive the therapy in the U.S. were patients of the UR Medicine Pediatric Neuromuscular Medicine Program.  Last year, it was announced that URMC would be the lead study site for an experimental gene therapy for CNL5 Batten disease, a rare and fatal disorder that first appears in childhood. This study is being led by pediatric neurologist Jonathan Mink, M.D., Ph.D.

In many childhood neurological disorders, spotting the disease before symptoms appear is critical for these new therapies to be effective.  Ciafaloni is currently working to get Duchene added to the New York State Newborn Screening Program, a panel of medical tests that screen newborns for 50 different disorders, primarily genetic, that can be more effectively treated if identified earlier.  DMD strikes early in life and the target age for the new study is 4-7 years old.  In 2018, Ciafaloni, along with others in the medical community and families, successfully convinced the state to add SMA to the list of newborn tests. 


Daily Steroids Safe and Slow Progression of Duchenne Muscular Dystrophy

Thursday, May 5, 2022

GriggsNew research published in JAMA recommends daily steroid doses for children with Duchenne muscular dystrophy (DMD), marking a significant change in how the disease is treated.  University of Rochester Medical Center (URMC) neurologist Robert Griggs, M.D., and Michela Guglieri, M.D., with Newcastle University in the U.K., led the study, which was conducted by a global team of researchers dedicated to improving care for this fatal disease.

“Corticosteroids are likely to remain the main treatment for DMD worldwide for the foreseeable future, so it is critical that we establish a standard of care that is backed by scientific evidence,” said Griggs.  “This study shows that health concerns over the daily use of corticosteroids are overstated and that there is a clear benefit in terms of improved motor and pulmonary functions. These findings clearly support the daily regimen over an intermittent one as an initial treatment for boys with DMD.”

DMD is a condition found almost exclusively in boys and characterized by muscle weakness, which appears at age 3-4 and progresses rapidly, leading to significant disability. The symptoms eventually spread to the heart and muscles responsible for breathing, and the disease is often fatal by the time the boy reaches his late teens.  An estimated 28,000 people in the U.S. suffer from the disease.

While corticosteroids prednisone and deflazacort are known to improve muscle strength and function in patients with DMD and have been a frontline treatment for years, there is currently no universally accepted standard for steroid use in DMD.  A global survey of physicians who treat DMD found 29 different regimens, with the most common being ten days on and ten days off.  This intermittent dosing regimen was put in place in an effort to limit the potential side effects associated with prolonged steroid use in children, such as weight gain, stunted growth, and loss of bone density.

The Finding the Optimum Regimen of Corticosteroids for DMD (FOR-DMD) study was launched in 2013 to compare daily and intermittent steroid use and establish, from a clinical benefit and safety perspective, the most beneficial regimen for DMD patients.  Griggs and Kate Bushby, M.D., with Newcastle University initiated the phase 3 clinical trial conducted through the Muscle Study Group, an international network of muscular dystrophy researchers that Griggs helped create in 1997 to advance clinical research in neuromuscular disorders, including DMD.

Read More: Daily Steroids Safe and Slow Progression of Duchenne Muscular Dystrophy

Documentary Sheds Light on the Parkinson’s ‘Pandemic’

Wednesday, May 4, 2022

Long road aheadA new documentary, titled The Long Road to Hope, tells the story of individuals with Parkinson’s and efforts to study, treat, and prevent the disease from a global perspective.   

The documentary was produced by the University of Rochester Center for Heath + Technology (CHeT) and features 12 Parkinson’s patients from the U.S., Canada, the U.K., and the Netherlands and medical commentary from University of Rochester Medical Center neurologist Ray Dorsey, M.D., and Bas Bloem, M.D., Ph.D., with Radboud University Medical Center in the Netherlands.  

Parkinson's disease is the fastest growing neurological disorder in the world, outpacing Alzheimer’s, and can be triggered by exposure to pesticides and industrial chemicals.  Dorsey and Bloem discuss the pandemic scope of this largely preventable disease and how addressing it will require a global effort with the same level of focus and resources employed with success to address other public health challenges, such as polio, HIV, and breast cancer. 

Read More: Documentary Sheds Light on the Parkinson’s ‘Pandemic’

Heatwole Appointed Director of CHeT

Wednesday, April 27, 2022

Chad Heatwole, M.D., M.S., has been appointed the new director of the Center for Health + Technology (CHeT) at the University of Rochester.  Selected through a national search process, Heatwole took over on a permanent basis on April 25 from Ray Dorsey, M.D., who led the Center since 2013.

“CHeT has a proud history dating back 35 years and has played a leading role in the study and approval of many of the drugs we use today to treat Parkinson’s and other neurological diseases,” said Bob Holloway, M.D., chair of the URMC department of Neurology.  “More recently, under Ray’s leadership CHeT has become a pioneer in deploying technologies to improve remote access to specialized care and allow broader participation in clinical research. Chad is well-positioned to lead CHeT into the next chapter and bring patients and communities – across a range of diseases – more into the center of what we do and become true partners in the development of future therapeutics.”

“Chad has played a pivotal role in our Neuromuscular Disease Center, particular the study of myotonic dystrophies, which is recognized as one of the top programs in the world,” said Mark Taubman, M.D., CEO of URMC and dean of the University of Rochester School of Medicine and Dentistry.  “He has helped create a robust infrastructure to support clinical trials, which has been instrumental in the growth of the neuromuscular program and we look forward to extending these efforts across the Medical Center, under CHeT.  I also want to thank Ray for his transformative leadership and creating a strong foundation which will ensure that CHeT thrives under Chad’s guidance.”

Read More: Heatwole Appointed Director of CHeT